Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02957:Prep'

365181

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prep

Ensembl Gene

ENSMUSG00000019849

Gene Name

prolyl endopeptidase

Synonyms

prolyl oligopeptidase, Pop, D10Wsu136e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02957

Quality Score

Status

Chromosome

Chromosomal Location

45067203-45167198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45126030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 427 (V427A)

Ref Sequence

ENSEMBL: ENSMUSP00000097444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099858]

AlphaFold

Q9QUR6

Predicted Effect

probably benign
Transcript: ENSMUST00000099858
AA Change: V427A

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097444
Gene: ENSMUSG00000019849
AA Change: V427A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_S9_N	7	423	1.2e-170	PFAM
Pfam:Peptidase_S9	482	707	1.7e-72	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit sex-dependent resistance to diet-induced obesity and adiposity. Mice heterozygous for a gene trap allele exhibit maternal inheritance influenced increase in body weight, organ weight, and adiposity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095E13Rik	G	T	9: 36,637,850	T38K	probably benign	Het
Abi2	A	G	1: 60,470,786	D262G	probably damaging	Het
Ahcyl1	G	T	3: 107,667,642	Q462K	probably damaging	Het
Btbd11	C	T	10: 85,631,286		probably benign	Het
Btbd11	T	A	10: 85,633,837	M405K	probably damaging	Het
C8b	A	G	4: 104,766,455	T20A	probably benign	Het
Casd1	T	A	6: 4,634,068	Y594N	possibly damaging	Het
Crtc2	C	T	3: 90,262,533	P412L	probably damaging	Het
Cyp3a44	T	A	5: 145,779,662	R373*	probably null	Het
Dnah10	A	G	5: 124,763,133	D1277G	probably benign	Het
Dnah2	A	T	11: 69,448,507	V3058E	possibly damaging	Het
Eif3l	T	C	15: 79,089,828	L481P	probably benign	Het
Fbxw7	A	T	3: 84,976,237	T573S	probably benign	Het
Fcgbp	C	A	7: 28,091,847	Y844*	probably null	Het
Fcrls	C	A	3: 87,262,194	V13F	possibly damaging	Het
Gbx2	T	G	1: 89,930,653	S35R	probably benign	Het
Gm10767	A	T	13: 66,908,213		probably benign	Het
H2-M9	A	G	17: 36,642,157	L86S	probably benign	Het
Hebp1	C	T	6: 135,137,992	G157D	probably benign	Het
Igf2bp3	C	A	6: 49,087,404	V560L	probably benign	Het
Igsf10	A	G	3: 59,330,864	I632T	probably damaging	Het
Kcnab2	A	T	4: 152,435,869	S5T	possibly damaging	Het
Kcnh5	T	C	12: 75,007,665	S502G	probably benign	Het
Lpcat2	T	A	8: 92,875,584	Y224*	probably null	Het
Mcrip2	A	G	17: 25,868,525	V24A	probably damaging	Het
Mttp	T	C	3: 138,109,081	K493E	possibly damaging	Het
Myl7	A	G	11: 5,897,137	S139P	possibly damaging	Het
Npepps	C	T	11: 97,242,652	R268H	probably damaging	Het
Oas1c	C	T	5: 120,805,413	W18*	probably null	Het
Olfr1328	G	T	4: 118,934,119	T241N	probably damaging	Het
P4ha3	T	C	7: 100,318,905		probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Pkhd1l1	T	A	15: 44,512,908	W989R	probably damaging	Het
Podxl	A	G	6: 31,528,449		probably benign	Het
Pot1b	T	C	17: 55,700,009	Y36C	probably damaging	Het
Ppme1	A	T	7: 100,338,440	I103K	possibly damaging	Het
Ppp1r12a	T	C	10: 108,198,918	I108T	probably damaging	Het
Pramel1	A	G	4: 143,397,598	H281R	probably benign	Het
Prkce	A	G	17: 86,496,026	D451G	possibly damaging	Het
Prrc2c	A	G	1: 162,706,535		probably benign	Het
Rrm2	A	G	12: 24,708,441	N32S	probably damaging	Het
Sema6a	A	G	18: 47,249,224	L752P	probably damaging	Het
Sik3	T	A	9: 46,195,845	I429N	possibly damaging	Het
Slc22a29	A	G	19: 8,169,990	L336P	probably benign	Het
Stk32a	A	T	18: 43,311,992	M284L	probably benign	Het
Syde2	T	C	3: 145,989,179		probably benign	Het
Tcta	G	A	9: 108,305,332	S91F	possibly damaging	Het
Traf3ip2	A	T	10: 39,654,410	T517S	probably damaging	Het
Trpv3	A	G	11: 73,285,872	Y359C	probably damaging	Het
Vmn1r66	A	G	7: 10,274,810	S99P	probably damaging	Het
Vmn2r8	G	A	5: 108,802,225	T252M	probably benign	Het
Wdr27	A	T	17: 14,910,110		probably benign	Het
Yipf1	A	G	4: 107,336,150	T78A	probably damaging	Het
Zfp735	A	T	11: 73,710,929	Y233F	probably benign	Het

Other mutations in Prep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Prep	APN	10	45115173	missense	probably damaging	1.00
IGL01412:Prep	APN	10	45153112	missense	probably damaging	1.00
IGL01577:Prep	APN	10	45072048	splice site	probably benign
IGL02751:Prep	APN	10	45115186	missense	probably damaging	1.00
IGL02754:Prep	APN	10	45067332	start codon destroyed	probably null	0.23
IGL02875:Prep	APN	10	45158433	missense	probably damaging	1.00
R0008:Prep	UTSW	10	45115078	missense	probably benign	0.17
R0008:Prep	UTSW	10	45115078	missense	probably benign	0.17
R0167:Prep	UTSW	10	45158230	critical splice acceptor site	probably null
R0396:Prep	UTSW	10	45092676	missense	probably damaging	1.00
R0828:Prep	UTSW	10	45155525	missense	probably benign	0.01
R1309:Prep	UTSW	10	45126026	missense	probably benign
R2166:Prep	UTSW	10	45092655	splice site	probably benign
R4020:Prep	UTSW	10	45092798	splice site	probably benign
R4058:Prep	UTSW	10	45158371	missense	probably benign	0.29
R4162:Prep	UTSW	10	45067362	missense	possibly damaging	0.96
R4163:Prep	UTSW	10	45067340	missense	probably benign
R4163:Prep	UTSW	10	45067362	missense	possibly damaging	0.96
R4328:Prep	UTSW	10	45120649	missense	probably benign
R4343:Prep	UTSW	10	45120770	missense	probably damaging	0.99
R4493:Prep	UTSW	10	45120819	missense	probably benign	0.38
R4495:Prep	UTSW	10	45120819	missense	probably benign	0.38
R5192:Prep	UTSW	10	45153111	missense	probably benign	0.28
R5569:Prep	UTSW	10	45097437	missense	probably benign
R5888:Prep	UTSW	10	45067364	missense	possibly damaging	0.74
R5999:Prep	UTSW	10	45072129	critical splice donor site	probably null
R6468:Prep	UTSW	10	45115107	missense	probably damaging	1.00
R6556:Prep	UTSW	10	45158314	frame shift	probably null
R6696:Prep	UTSW	10	45153078	missense	probably damaging	1.00
R6737:Prep	UTSW	10	45097495	missense	possibly damaging	0.62
R6762:Prep	UTSW	10	45148123	critical splice donor site	probably null
R6830:Prep	UTSW	10	45097501	missense	probably benign	0.01
R7105:Prep	UTSW	10	45126063	missense	probably benign
R7193:Prep	UTSW	10	45092699	missense	probably benign	0.00
R7466:Prep	UTSW	10	45150438	missense	probably benign	0.32
R7492:Prep	UTSW	10	45120814	missense	probably damaging	1.00
R7553:Prep	UTSW	10	45158524	makesense	probably null
R7860:Prep	UTSW	10	45091012	missense	probably damaging	1.00
R8544:Prep	UTSW	10	45153127	missense	probably damaging	1.00
R8808:Prep	UTSW	10	45095156	nonsense	probably null
R8894:Prep	UTSW	10	45158524	makesense	probably null
R9055:Prep	UTSW	10	45115195	missense	probably benign	0.01
R9316:Prep	UTSW	10	45091096	missense	probably damaging	1.00
R9488:Prep	UTSW	10	45120711	missense
Z1176:Prep	UTSW	10	45150468	missense	probably damaging	1.00

Posted On

2015-12-18